A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv675857



Internal ID15065823
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:130185940..130390177hg38UCSC Ensembl
Innerchr2:130943513..131147750hg19UCSC Ensembl
Innerchr2:130659983..130864220hg18UCSC Ensembl
Innerchr2:130659743..130863980hg17UCSC Ensembl
Cytoband2q21.1
Allele length
AssemblyAllele length
hg38204238
hg19204238
hg18204238
hg17204238
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv520559
Supporting Variants
Samples
Known GenesCCDC115, IMP4, MZT2B, PTPN18, TUBA3E
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv675857
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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